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  1. Pierpont, Elizabeth I. [Author]; Bennett, Anton M. [Author]; Schoyer, Lisa [Author]; Stronach, Beth [Author]; Anschutz, April [Author]; Borrie, Sarah C. [Author]; Briggs, Benjamin [Author]; Burkitt-Wright, Emma [Author]; Castel, Pau [Author]; Cirstea, Ion Cristian [Author]; Draaisma, Fieke [Author]; Ellis, Michelle [Author]; Fear, Vanessa S. [Author]; Frone, Megan N. [Author]; Flex, Elisabetta [Author]; Gelb, Bruce D. [Author]; Green, Tamar [Author]; Gripp, Karen W. [Author]; Khoshkhoo, Sattar [Author]; Kieran, Mark W. [Author]; Kleemann, Karolin [Author]; Klein-Tasman, Bonita P. [Author]; Kontaridis, Maria I. [Author]; Kruszka, Paul [Author]; [...]

    The 8th International RASopathies symposium : expanding research and care practice through global collaboration and advocacy

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    2024

    Published in: American journal of medical genetics ; 194(2024), 4, Artikel-ID e63477

  2. Škorić-Milosavljević, Doris [Author]; Lahrouchi, Najim [Author]; Bosada, Fernanda M. [Author]; Dombrowsky, Gregor [Author]; Williams, Simon G. [Author]; Lesurf, Robert [Author]; Tjong, Fleur V. Y. [Author]; Walsh, Roddy [Author]; El Bouchikhi, Ihssane [Author]; Breckpot, Jeroen [Author]; Audain, Enrique [Author]; Ilgun, Aho [Author]; Beekman, Leander [Author]; Ratbi, Ilham [Author]; Strong, Alanna [Author]; Muenke, Maximilian [Author]; Heide, Solveig [Author]; Muir, Alison M. [Author]; Hababa, Mariam [Author]; Cross, Laura [Author]; Zhou, Dihong [Author]; Pastinen, Tomi [Author]; Zackai, Elaine [Author]; Atmani, Samir [Author]; [...]

    Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

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    2021

    Published in: Genetics in medicine ; 23(2021), 10, Seite 1952-1960

  4. Aly, Jasmine; Kruszka, Paul

    Novel insights in Turner syndrome

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    Ovid Technologies (Wolters Kluwer Health), 2022

    Published in: Current Opinion in Pediatrics, 34 (2022) 4, Seite 447-460

  5. Kruszka, Paul; Beaton, Andrea

    The state of congenital heart disease

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    Wiley, 2020

    Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 184 (2020) 1, Seite 5-6

  11. Kruszka, Paul; Tekendo-Ngongang, Cedrik; Muenke, Maximilian

    Diversity and dysmorphology

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    Ovid Technologies (Wolters Kluwer Health), 2019

    Published in: Current Opinion in Pediatrics, 31 (2019) 6, Seite 702-707

  14. Kruszka, Paul; Solomon, Benjamin D.; Muenke, Maximilian

    Introduction

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    Wiley, 2018

    Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 178 (2018) 2, Seite 113-116

  15. Kruszka, Paul; Martinez, Ariel F.; Muenke, Maximilian

    Molecular testing in holoprosencephaly

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    Wiley, 2018

    Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 178 (2018) 2, Seite 187-193